Barth PG - Search Results

1

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060.

Barth PG, Wanders RJ, Vreken P. Barth PG, et al. J Pediatr. 1999 Sep;135(3):273-6. doi: 10.1016/s0022-3476(99)70118-6. J Pediatr. 1999. PMID: 10484787 Review. No abstract available.

2

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

Valianpour F, Wanders RJ, Overmars H, Vreken P, Van Gennip AH, Baas F, Plecko B, Santer R, Becker K, Barth PG. Valianpour F, et al. Among authors: barth pg. J Pediatr. 2002 Nov;141(5):729-33. doi: 10.1067/mpd.2002.129174. J Pediatr. 2002. PMID: 12410207

3

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).

Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F. Barth PG, et al. J Inherit Metab Dis. 1999 Jun;22(4):555-67. doi: 10.1023/a:1005568609936. J Inherit Metab Dis. 1999. PMID: 10407787 Review.

4

Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.

Lissens W, Vreken P, Barth PG, Wijburg FA, Ruitenbeek W, Wanders RJ, Seneca S, Liebaers I, De Meirleir L. Lissens W, et al. Among authors: barth pg. Eur J Pediatr. 1999 Oct;158(10):853-7. doi: 10.1007/s004310051222. Eur J Pediatr. 1999. PMID: 10486093

5

Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances.

van Ommen CH, Peters M, Barth PG, Vreken P, Wanders RJ, Jaeken J. van Ommen CH, et al. Among authors: barth pg. J Pediatr. 2000 Mar;136(3):400-3. doi: 10.1067/mpd.2000.103503. J Pediatr. 2000. PMID: 10700701

6

Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.

Vreken P, Valianpour F, Nijtmans LG, Grivell LA, Plecko B, Wanders RJ, Barth PG. Vreken P, et al. Among authors: barth pg. Biochem Biophys Res Commun. 2000 Dec 20;279(2):378-82. doi: 10.1006/bbrc.2000.3952. Biochem Biophys Res Commun. 2000. PMID: 11118295

In this paper we present evidence that patients with the rare disorder X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) have a primary defect in CL and PG remodeling. We investigated phospholipid metabolism in cultured skin fibroblasts o …

In this paper we present evidence that patients with the rare disorder X-linked cardioskeletal myopathy and neutropenia (Barth syndro …

7

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.

Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ. Barth PG, et al. Am J Med Genet A. 2004 May 1;126A(4):349-54. doi: 10.1002/ajmg.a.20660. Am J Med Genet A. 2004. PMID: 15098233 Review.

8

Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients.

Valianpour F, Wanders RJ, Barth PG, Overmars H, van Gennip AH. Valianpour F, et al. Among authors: barth pg. Clin Chem. 2002 Sep;48(9):1390-7. Clin Chem. 2002. PMID: 12194913

9

Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course.

Barth PG, Wanders RJ, Schutgens RB, Bleeker-Wagemakers EM, van Heemstra D. Barth PG, et al. Eur J Pediatr. 1990 Jul;149(10):722-6. doi: 10.1007/BF01959531. Eur J Pediatr. 1990. PMID: 2209666

10

Clinical and biochemical characteristics of peroxisomal disorders: an update.

Wanders RJ, Barth PG, Schutgens RB, Tager JM. Wanders RJ, et al. Among authors: barth pg. Eur J Pediatr. 1994;153(7 Suppl 1):S44-8. doi: 10.1007/BF02138777. Eur J Pediatr. 1994. PMID: 7957386 Review.

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